Bioinformatics and Next Generation Sequencing

The diagnosis and characterization of rare diseases combines genotypic and phenotypic data. While the genotype is defined by the genomic DNA sequence, the phenotype of a disease comprises of complex and much less standardized information, including clinical history, family history, and physical examination results. Though physicians are trained to be experts in patient phenotyping, rare diseases pose challenges that need to be addressed through dedicated workflows and supported by suitable software tools.

Next Generation Sequencing (NGS)
NGS technologies have revolutionized rare diseases research by providing a fast and cost-efficient tool to generate genotye data, and to identify potentially disease-causing genetic variants. Under the leadership of Christoph Bock and in collaboration with the Biomedical Sequencing Facility at CeMM and MedUni Vienna, we have established comprehensive sequencing and bioinformatics pipelines for rare diseases. This infrastructure provides the backbone for rare disease genomics at LBI-RUD

Data Sharing and Standardization
Due to the low incidence of rare diseases, even highly specialized physicians confronted with a new case might not have seen a patient with that same disease ever before. To diagnose and treat rare diseases, it is therefore essential that physicians around the world work together and exchange relevant information. LBI-RUD uses and contributes to software tools that facilitate secure data exchange among trusted parties, following highest ethical standards for patient protection.

Epigenetics of Rare Immune Diseases
In collaboration with the Medical Epigenomics Lab at CeMM, which is led by Christoph Bock, we investigate epigenetic (de-)regulation in rare immune diseases, exploring to what degree large-scale epigenome mapping can improve disease diagnostics, provide insights into the underlying biological mechanisms, and perhaps even identify new concepts for treatment.